Evidence map›Paper›PMID 27287057›Full record

ReviewAlzheimer's & dementia : the journal of the Alzheimer's Association2016

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.

Catherine Labbé, Michael G Heckman, Oswaldo Lorenzo-Betancor, Alexandra I Soto-Ortolaza, Ronald L Walton, Melissa E Murray, Mariet Allen, Ryan J Uitti, Zbigniew K Wszolek, Glenn E Smith and 15 more

Open access · greenAbstract readReview
In one paragraph

Review in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
3.3field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

32 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.

  1. Pooled it
  2. Review
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  7. Review
  8. Article
  9. CNV-Finder: Streamlining Copy Number Variation Discovery.bioRxiv : the preprint server for biology · 2025
    Article
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  12. Review
  13. The genetic basis of multiple system atrophy.Journal of translational medicine · 2023
    Review
  14. Article
  15. Article
  16. Article
  17. Tau and MAPT genetics in tauopathies and synucleinopathies.Parkinsonism & related disorders · 2021
    Review
  18. Review
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors at 5 institutions in 1 country.

Catherine LabbéDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Michael G HeckmanDivision of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, FL, USA.
Oswaldo Lorenzo-BetancorDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Alexandra I Soto-OrtolazaDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Ronald L WaltonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Melissa E MurrayDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Mariet AllenDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Ryan J UittiDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Glenn E SmithDepartment of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA; Department of Clinical and Health Psychology, University of Florida, Gainesville, Florida, USA.
Kejal KantarciDepartment of Radiology, Mayo Clinic, Rochester, MN, USA.
David S KnopmanDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Val J LoweDepartment of Radiology, Mayo Clinic, Rochester, MN, USA.
Clifford R JackDepartment of Radiology, Mayo Clinic, Rochester, MN, USA.
Nilüfer Ertekin-TanerDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Anhar HassanDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Rodolfo SavicaDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Ronald C PetersenDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Joseph E ParisiDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Demetrius M MaraganoreDepartment of Neurology, NorthShore University HealthSystem, Evanston, IL, USA.
Neill R Graff-RadfordDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Tanis J FermanDepartment of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA.
Bradley F BoeveDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Mayo Graduate School, Mayo Clinic, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.
Jacksonville College · USMayo Clinic in Arizona · USMayo Clinic in Florida · USWinnMed · USNorthShore University HealthSystem · US

Funding

SUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6M
THE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI BU, GUOJUN · 1999 to 2018
$36.9M
Integrating the exposome and methylome to inform brain molecular changes in ADRD across established diverse cohorts.U01AG046139 · NIA · UNIVERSITY OF FLORIDA · PI ERTEKIN-TANER, NILUFER, FUNK, CORY · 2013 to 2022
$24.6M
Integrative translational discovery of vascular risk factors in aging and dementiaRF1AG051504 · NIA · MAYO CLINIC JACKSONVILLE · PI BU, GUOJUN, ERTEKIN-TANER, NILUFER · 2015 to 2019
$9.8M
Supplement-ES10751 (Molecular Epidemiology of PD)R01ES010751 · NIEHS · MAYO CLINIC ROCHESTER · PI MARAGANORE, DEMETRIUS MICHAEL · 2000 to 2010
$9.2M
Neuropathology CoreP50NS072187 · NINDS · MAYO CLINIC JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 2010 to 2017
$8.7M
University of Florida - Mt. Sinai Medical Center AD Research CenterP50AG047266 · NIA · UNIVERSITY OF FLORIDA · PI FEBO, MARCELO · 2015 to 2019
$7.3M
Gene discovery in PSP by transcriptome, neuropathology and sequence analysisR01NS080820 · NINDS · MAYO CLINIC JACKSONVILLE · PI ERTEKIN-TANER, NILUFER · 2013 to 2017
$1.8M
Understanding the role of MAPT in Parkinsonian disordersR01NS078086 · NINDS · MAYO CLINIC JACKSONVILLE · PI ROSS, OWEN A · 2012 to 2016
$1.7M
NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG047266NIA NIH HHS RF1 AG051504NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG046139NIEHS NIH HHS R01 ES010751NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS078086NINDS NIH HHS R01 NS080820
6 · The paper itself

Abstract

introductionThe MAPT H1 haplotype has been associated with several neurodegenerative diseases. We were interested in exploring the role of MAPT haplotypic variation in risk of dementia with Lewy bodies (DLB).

methodWe genotyped six MAPT haplotype tagging SNPs and screened 431 clinical DLB cases, 347 pathologically defined high-likelihood DLB cases, and 1049 controls.

resultWe performed haplotypic association tests and detected an association with the protective H2 haplotype in our combined series (odds ratio [OR] = 0.75). We fine-mapped the locus and identified a relatively rare haplotype, H1G, that is associated with an increased risk of DLB (OR = 3.30, P = .0017). This association was replicated in our pathologically defined series (OR = 2.26, P = .035). DISCUSSION: These results support a role for H1 and specifically H1G in susceptibility to DLB. However, the exact functional variant at the locus is still unknown, and additional studies are warranted to fully explain genetic risk of DLB at the MAPT locus.

Indexed as

Genetic Association StudiesBrainGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLewy Body DiseasePolymorphism, Single Nucleotidetau ProteinsMAPT protein, humantau ProteinsDementia with Lewy bodiesGenetic association studyLewy body diseaseMAPTtau protein

Identifiers

PMID27287057
PMCPMC5143206
OpenAlexW2412578841

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.